ClinVar for Gene (Select 282973) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3112193	NM_001323087.2(JAKMIP3):c.890T>C (p.Leu297Pro)	JAKMIP3 (L140P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112192	NM_001323087.2(JAKMIP3):c.793C>T (p.Arg265Trp)	JAKMIP3 (R182W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112191	NM_001323087.2(JAKMIP3):c.710A>G (p.Gln237Arg)	JAKMIP3 (Q154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112190	NM_001323087.2(JAKMIP3):c.688G>A (p.Gly230Arg)	JAKMIP3 (G147R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112189	NM_001323087.2(JAKMIP3):c.344G>A (p.Arg115Gln)	JAKMIP3 (R32Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112188	NM_001323087.2(JAKMIP3):c.2395C>T (p.Arg799Cys)	JAKMIP3 (R725C +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112187	NM_001323087.2(JAKMIP3):c.2329G>A (p.Val777Met)	JAKMIP3 (V702M +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112186	NM_001323087.2(JAKMIP3):c.2138A>G (p.Glu713Gly)	JAKMIP3 (E554G +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112185	NM_001323087.2(JAKMIP3):c.2114G>A (p.Arg705Gln)	JAKMIP3 (R629Q +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112184	NM_001323087.2(JAKMIP3):c.2102C>T (p.Ala701Val)	JAKMIP3 (A600V +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112183	NM_001323087.2(JAKMIP3):c.196C>T (p.His66Tyr)	JAKMIP3 (H66Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112182	NM_001323087.2(JAKMIP3):c.181C>T (p.Arg61Cys)	JAKMIP3 (R61C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112181	NM_001323087.2(JAKMIP3):c.1783A>G (p.Arg595Gly)	JAKMIP3 (R494G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112180	NM_001323087.2(JAKMIP3):c.1775C>A (p.Ala592Asp)	JAKMIP3 (A509D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112179	NM_001323087.2(JAKMIP3):c.1724G>A (p.Arg575Gln)	JAKMIP3 (R573Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112178	NM_001323087.2(JAKMIP3):c.1628T>C (p.Val543Ala)	JAKMIP3 (V460A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112177	NM_001323087.2(JAKMIP3):c.1261G>A (p.Ala421Thr)	JAKMIP3 (A346T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112176	NM_001323087.2(JAKMIP3):c.1070G>A (p.Arg357Gln)	JAKMIP3 (R274Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684628	GRCh37/hg19 10q26.3(chr10:132852693-134505024)x3	BNIP3, DPYSL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2615031	NM_001323087.2(JAKMIP3):c.875C>T (p.Ala292Val)	JAKMIP3 (A220V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611754	NM_001323087.2(JAKMIP3):c.1723C>T (p.Arg575Trp)	JAKMIP3 (R492W +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597466	NM_001323087.2(JAKMIP3):c.596G>A (p.Arg199His)	JAKMIP3 (R116H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592402	NM_001323087.2(JAKMIP3):c.2018A>G (p.Asn673Ser)	JAKMIP3 (N598S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590483	NM_001323087.2(JAKMIP3):c.626G>A (p.Arg209His)	JAKMIP3 (R126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588106	NM_001323087.2(JAKMIP3):c.1643C>T (p.Ala548Val)	JAKMIP3 (A391V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2570037	NM_001323087.2(JAKMIP3):c.68C>T (p.Ala23Val)	JAKMIP3 (A23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553904	NM_001323087.2(JAKMIP3):c.252G>A (p.Met84Ile)	JAKMIP3 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550638	NM_001323087.2(JAKMIP3):c.2345G>A (p.Arg782His)	JAKMIP3 (R623H +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549163	NM_001323087.2(JAKMIP3):c.1451C>A (p.Thr484Asn)	JAKMIP3 (T409N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543101	NM_001323087.2(JAKMIP3):c.2272G>A (p.Gly758Arg)	JAKMIP3 (G670R +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536152	NM_001323087.2(JAKMIP3):c.379G>A (p.Gly127Ser)	JAKMIP3 (G127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521164	NM_001323087.2(JAKMIP3):c.502G>A (p.Val168Met)	JAKMIP3 (V85M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511596	NM_001323087.2(JAKMIP3):c.1360A>G (p.Thr454Ala)	JAKMIP3 (T371A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2480185	NM_001323087.2(JAKMIP3):c.2315A>G (p.Lys772Arg)	JAKMIP3 (K700R +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469831	NM_001323087.2(JAKMIP3):c.334G>A (p.Glu112Lys)	JAKMIP3 (E29K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459574	NM_001323087.2(JAKMIP3):c.1946C>T (p.Thr649Met)	JAKMIP3 (T574M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408153	NM_001323087.2(JAKMIP3):c.1574G>A (p.Gly525Glu)	JAKMIP3 (G451E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407073	NM_001323087.2(JAKMIP3):c.2398A>G (p.Met800Val)	JAKMIP3 (M784V +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376801	NM_001323087.2(JAKMIP3):c.1577C>T (p.Thr526Met)	JAKMIP3 (T369M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372036	NM_001323087.2(JAKMIP3):c.1340C>G (p.Pro447Arg)	JAKMIP3 (P373R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369038	NM_001323087.2(JAKMIP3):c.278C>T (p.Thr93Met)	JAKMIP3 (T93M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358436	NM_001323087.2(JAKMIP3):c.1309C>T (p.Arg437Trp)	JAKMIP3 (R280W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358153	NM_001323087.2(JAKMIP3):c.518C>T (p.Thr173Met)	JAKMIP3 (T173M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354274	NM_001323087.2(JAKMIP3):c.1139G>A (p.Arg380Gln)	JAKMIP3 (R223Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349918	NM_001323087.2(JAKMIP3):c.1399G>A (p.Asp467Asn)	JAKMIP3 (D310N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349663	NM_001323087.2(JAKMIP3):c.528C>G (p.Ile176Met)	JAKMIP3 (I93M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331264	NM_001323087.2(JAKMIP3):c.1459G>A (p.Asp487Asn)	JAKMIP3 (D412N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312376	NM_001323087.2(JAKMIP3):c.487G>A (p.Gly163Ser)	JAKMIP3 (G80S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288743	NM_001323087.2(JAKMIP3):c.1961C>A (p.Ala654Glu)	JAKMIP3 (A497E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278356	NM_001323087.2(JAKMIP3):c.1493C>T (p.Thr498Met)	JAKMIP3 (T423M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277513	NM_001323087.2(JAKMIP3):c.977G>A (p.Arg326His)	JAKMIP3 (R169H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277264	NM_001323087.2(JAKMIP3):c.329A>C (p.Asp110Ala)	JAKMIP3 (D110A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276370	NM_001323087.2(JAKMIP3):c.59C>T (p.Ala20Val)	JAKMIP3 (A20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275079	NM_001323087.2(JAKMIP3):c.2255C>G (p.Ala752Gly)	JAKMIP3 (A651G +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266005	NM_001323087.2(JAKMIP3):c.950C>T (p.Ser317Leu)	JAKMIP3 (S160L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259911	NM_001323087.2(JAKMIP3):c.940G>A (p.Ala314Thr)	JAKMIP3 (A240T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238120	NM_001323087.2(JAKMIP3):c.2428A>G (p.Ile810Val)	JAKMIP3 (I651V +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209341	NM_001323087.2(JAKMIP3):c.2105C>T (p.Ala702Val)	JAKMIP3 (A543V +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206405	NM_001323087.2(JAKMIP3):c.1585G>A (p.Ala529Thr)	JAKMIP3 (A372T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809436	GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1	ADAM8, ADGRA1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527622	GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)	ADAM8, ADGRA1 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	TCERG1L, TCERG1L-AS1 +35 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979910	GRCh37/hg19 10q26.3(chr10:133833614-134198380)x3	JAKMIP3, STK32C +2 more	Copy number gain	not provided	GLikely benign
Select item 979909	GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1	PPP2R2D, BNIP3 +37 more	Copy number loss	not provided	GPathogenic
Select item 815387	GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1	ADAM8, ADGRA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 815385	GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1	DPYSL4, INPP5A +37 more	Copy number loss	not provided	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic

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